Ddx Flashcards
Mucopolysaccharidosis a group of inherited dx in which the body is unable to break down mucopolyssachrides
Symptoms: - macrocephaly - umbilical hernia or ingunal hernia - hydrocephalus - heart valve abnormalities - distinctive facies - macroglossia - hepatospleenomegaly - carpal tunnel syndrome - spine stenosis -
If baby has central cyanosis
Ddx: - congenital heart disease
Bluish colouration of skin
- respiratory problems
- cardiac problems
- methaemoglobinemia
Large fontanelle, seperation sutures, delayed closure of fontanelles
- raised ICP
- hypothyroidism
- rickets
Macrocephaly
- subdural haematoma
- hydrocephalus
- ingerited syndromes such as Beckweith, muco…
- familial macrocephaly
Low set ears
- associated with renal tract anomalies
Pierre robbin syndrome
- micrognathia or underdeveloped jaw
- backward displacement of tongue
- air obstruction
- cleft palate
- repeated ear infections
- batal teeth
Scaphoid abdomen
- diaphragmatic hernia
- duodenal atresia
Distended abdomen
- intestinal obstruction Peristalsis From left to right is high IO Peristalsis From right to left is low IO - perforation - free gas in the liver
Pneumatosis intestinalis
Pneumatosis intestinalis (PI) refers to the presence of gas within the wall of the small or large intestine. Intramural gas can also affect the stomach, but this condition is referred to as gastric pneumatosis
Absence of Moro reflex
- suggests cerebral damage
Cranial nerve one
Smell-ability of each nostril to different smells
Cranial nerve 2
Visual acuity, visual fields, pupils (size, shape, reaction to light and consensual); Fundoscopy: papilloedema, optic atrophy, cataract
Cranial nerve three
Occlumotor nerve palsy
Palsy: Unilateral ptosis, fixed dilated pupil, eye down and out
third nerve palsy may be present at birth (congenital), and the exact cause may not be clear. Acquired third nerve palsy can be associated with head injury, infection, vaccination, migraine, brain tumor, aneurysm, diabetes, or high blood pressure.
Cranial nerve four
